School of child & adolescent health

Title: Demographic and Clinical characteristics of children with Juvenile Dermatomyositis in Cape Town

Authors: Lawrence Owino Okong’o, Jo Wilmshurst, Chris Scott

Study rationale:

Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory myopathy of childhood with an incidence of 1.9-3.2 per million. The aetiology of JDM is uncertain but may result from immune dysregulation triggered by environmental factors in genetically susceptible children. The demographic and clinical characteristics of JDM may thus differ by race and geographic regions. Few studies have described the characteristics of JDM patients from Africa. There is need for further studies for better understanding of the epidemiology, clinical characteristics and outcome of patients with JDM from the continent.

Methods:

We conducted a retrospective observational study to determine clinical characteristics and outcomes of patients satisfying the Bohan and Peter criteria for probable JDM seen between 2004-2013 in Red Cross, Groote Schuur and Tygerberg hospitals in Cape Town. Data was analyzed using R version 3.1.0 (2014-04-10).

Results:

Twenty five cases were identified: 16 female and 9 male. Thirteen (52%) of the cases were of indigenous African, eleven (44%) mixed and one (4%) European ancestry. The median ages at disease onset and diagnosis were 6.75 (range 2.0-9.7) and 7.9 (range 3.4-9.75) years respectively. Muscle weakness and characteristic cutaneous manifestations occurred in all the 25 patients while 24 had elevated muscle enzymes. All the patients received corticosteroids, seventeen (73.9%) received methotrexate and four received rituximab. Eleven patients had calcinosis during the disease course [median follow up period of 50 (range 0.5-159) months]. The mortality was 2/25 (8%) while only 40% of the patients had clinically inactive disease by PRINTO criteria. There was no difference in racial distribution (p-value = 1), age at disease onset (p-value = 0.87) and disease duration prior to treatment initiation (p-value = 0.75) between patients who had clinically active and inactive disease.

Discussion:

The demographic characteristics of children with JDM were similar to that from most other regions of the world with female predominance and similar age at onset. The median delay in diagnosis (4 months) was not longer than that reported in most other studies. However, some children had prolonged delay of up to 7 years due to misdiagnosis that denied them appropriate treatment in a timely manner. Majority (60%) of the patients also remained with clinically active disease, which put them at risk of further disease complications including calcinosis. Even though the mortality rate was low (8%) this was still more than double that reported in most recent large studies especially from the resource rich countries.

Conclusions:

Long term follow up of JDM patients is advisable since majority of patients seem to have clinically active disease many years after disease onset despite treatment. Formulation and use of appropriate treatment guidelines and protocols may aid in the early diagnosis and appropriate management for optimum outcomes.

Title: WOMEN’S EXPERIENCES OF RECEIVING A CHILD’S FETAL ALCOHOL SPECTRUM DISORDER DIAGNOSIS: A WESTERN CAPE STUDY
Authors: Tarryn Shaw (MSc (Med) Genetic Counselling candidate)^a, Tina-Marié Wessels (Coordinator of MSc (Med) Genetic Counselling program, PhD)^a, Leana Olivier (FARR CEO)^b, Chanelle Lombard (FARR researcher)^b
Affiliation: ^a Division of Pathology, Department of Human Genetics, UCT; ^b Foundation for Alcohol Related Research, South Africa


There are a range of conditions, collectively known as fetal alcohol spectrum disorders (FASD), which result from the exposure of a developing fetus to alcohol. The major public health implications for FASD are irreversible, progressive and severe and are preventable. South Africa has among the highest rates of FASD reported in the world, especially among the impoverished communities in the Western Cape region. Rates of up to 208.8 per 1000 first grade learners have been reported. The need for screening, surveillance and immediate prevention work has been stressed. Additionally, there is limited awareness of the dangers of drinking alcohol during pregnancy. The Foundation for Alcohol Related Research (FARR) recently conducted a FASD prevalence study to assess the burden of this problem in the Western Cape and to identify targets for intervention and prevention work. Grade one learners from West Coast schools were diagnosed, and their mothers received a feedback session and further counseling. Limited research has been conducted on understanding the experiences of parents who raise children with FASD and who have been through this diagnostic process. This is invaluable in understanding what needs, support, services, education and funding is required. The aim of the research was therefore to explore the experiences, comprehension, feelings and perceived needs of mothers who have a child recently diagnosed with FASD. 13 participants were recruited through the FARR prevention study and semi-structured interviews were conducted at Vredenburg Private Hospital in the West Coast region. Additionally, 3 community workers were interviewed. The data was analyzed through a thematic content analysis approach. Research findings indicated a change in prevention and management following the program; an understanding of the psychosocial issues associated which lead to a women drinking; a misunderstanding of the process in which alcohol causes harm; and the need for further education, follow-up sessions and community awareness. From the research it was found that it is difficult for the mothers to manage their child with FASD. Most felt guilty but others were in denial. The social circumstances are difficult as alcohol, drugs, illness, death and poverty are rife. Their relationships with their partners and how this affected their drinking behaviour are complex. The mothers found it helpful to know the diagnosis and this helped them understand their child’s problems and the effects of alcohol in pregnancy. They felt strongly that they will abstain from alcohol use during pregnancy and that they will encourage other women to do the same. Although they know that alcohol was the cause of their child’s problems, there were a number of misconceptions such as the amount of alcohol, whether the mother or the father was responsible and that drugs are safer than alcohol use during pregnancy. These research findings will impact strategies to support families, help to improve services and guide prevention programs for FASD.
HREC/REF: 811/2014
Title: Role of Focused Abdominal Sonography in Trauma (FAST) as a screening tool for Blunt Abdominal Trauma (BAT) in young children involved in high velocity trauma


Authors: Tummers WS, Langeveld H, van Schuppen J, Wilde JCH, van As AB, Millar AJ, Numanoglu A
Affiliation: Trauma Unit, Department of Paediatric Surgery, Red Cross War Memorial Children’s Hospital in Cape Town, University of Cape Town


Purpose:

To review the utility of Focussed Abdominal Sonography in Trauma (FAST) as screening tool for blunt abdominal trauma on young children after sustaining high velocity trauma. The objectives were to determine whether FAST added value after physical examination in the detection of intra-abdominal injury and to determine the added value of FAST with reference to treatment.

Materials and methods:

Patients who presented in the Trauma Unit of RXH after high velocity trauma underwent both physical examination and FAST. With FAST, possible free fluid in abdomen and pelvis was assessed. Sensitivity, specificity, positive, and negative predicting values for identifying intra-abdominal injury were calculated for physical examination and FAST individually, or combined when used together.

Results:

Seventy-five (75) patients were included, n=46 were motor vehicle crash pedestrian, n=14 assault, n=9 fall from height, n=4 motor vehicle crash passenger, n=1 child hit by falling table, n=1 child hit by falling TV. Ages ranged from 3 months to 13 years. On physical examination the sensitivity was 0.80, specificity 0.83, PPV 0.42, and NPV 0.96. On FAST the sensitivity 0.50, specificity 1.00, PPV 1.00, and NPV 0.93. Combined the sensitivity raised to 0.90. Regarding management, 73 patients were treated with non-operative management and two were operated.

Conclusion:

Based on the results we suggest FAST is performed in combination with physical examination on every paediatric patient involved in a high velocity trauma suspected of BAT. When both are negative, non-operative management can be used without fear of missing clinically significant injury. Lastly, FAST can be accurately performed by relatively inexperienced doctors after a proper training for this purpose.

Title: EVALUATION OF A FOCUSED PROTOCOL FOR HAND-HELD CHOCARDIOGRAPHY AND COMPUTER-ASSISTED AUSCULTATION IN DETECTING LATENT RHEUMATIC HEART DISEASE IN SCHOLARS

Authors: Liesl J Zühlke^{1, 2}, Mark E Engel ¹, Simpiwe Nkepu ¹, Bongani M Mayosi ¹
Affiliation: ¹The Cardiac Clinic, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa; ²Division of Paediatric Cardiology, Department of Paediatrics and Child Health, Red Cross War Memorial Children’s Hospital and University of Cape Town, Cape Town, South Africa

Introduction:

Echocardiography is the diagnostic test of choice for latent rheumatic heart disease. The utility of echocardiography for large-scale screening is limited by high cost, complex diagnostic protocols, and time to acquire multiple images. We evaluated the performance of a brief hand-held echocardiography protocol and computer-assisted auscultation in detecting latent rheumatic heart disease with or without pathological murmur.

Methods:

Twenty-seven asymptomatic participants with latent rheumatic heart disease based on World Heart Federation criteria and 66 healthy controls were examined by standard cardiac auscultation to detect pathological murmur. Hand-held echocardiography using a focused protocol which utilises one view (i.e., parasternal long-axis) and one measurement (i.e., mitral regurgitant jet) and computer-assisted auscultation utilising an automated decision tool were performed on all participants. HREC: 026/2006

Results:

The sensitivity and specificity of computer-assisted auscultation in latent rheumatic heart disease was 4% (95% CI 1.0 to 20.4%) and 93.7% (95% CI 84.5 to 98.3%), respectively. The sensitivity and specificity of the focused hand-held echocardiography protocol for definite rheumatic heart disease was 92.3% (95% CI 63.9 to 99.8%) and 100% respectively. The test reliability of hand-held echocardiography was 98.7% for definite and 94.7 % for borderline disease and adjusted diagnostic odds ratios were 1041 and 263.9 for definite and borderline disease respectively.

Conclusion:

Computer-assisted auscultation has extremely low sensitivity but high specificity for pathological murmur in latent rheumatic heart disease. Focused hand-held echocardiography has fair sensitivity but high specificity and diagnostic utility for definite or borderline rheumatic heart disease in asymptomatic participants.

Corresponding author

Dr Liesl Zühlke, Department of Medicine, J46.43 Old Main Building, Groote Schuur Hospital, Observatory 7925, Cape Town, South Africa
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